{"id":"1c3851c3-5caf-5a39-834f-4f0a5581e582","stable_key":"649e861b-265a-5912-bc36-3a73e53ef892:l-serine-asct1-genetic","predicate":"when_variant_is_associated_with","statement":"Two unrelated individuals with biallelic SLC1A4 variants had severe developmental delay, progressive microcephaly, seizures, spasticity and thin corpus callosum.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"b9c1219f-0a45-506c-809c-7574a4a5a3ca","mechanism_event_label":"A transport defect can matter even when amino-acid synthesis is present.","subject":{"id":"5a802528-9866-5200-89fe-d32e234882e1","slug":"slc1a4","display_name":"Human neutral amino acid exchanger ASCT1 / SLC1A4","entity_type_key":"protein"},"object":{"id":"c834c977-0694-597e-bc21-81e275a7c057","slug":"human-slc1a4-neurodevelopment","display_name":"Neurodevelopmental disease associated with SLC1A4 variants","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"b9c1219f-0a45-506c-809c-7574a4a5a3ca","stable_key":"649e861b-265a-5912-bc36-3a73e53ef892:l-serine-asct1-genetic-event","event_type":"observed_relationship","label":"A transport defect can matter even when amino-acid synthesis is present.","description":"Two unrelated individuals with biallelic SLC1A4 variants had severe developmental delay, progressive microcephaly, seizures, spasticity and thin corpus callosum.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"5a802528-9866-5200-89fe-d32e234882e1","slug":"slc1a4","display_name":"Human neutral amino acid exchanger ASCT1 / SLC1A4","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"c834c977-0694-597e-bc21-81e275a7c057","slug":"human-slc1a4-neurodevelopment","display_name":"Neurodevelopmental disease associated with SLC1A4 variants","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"c882cd0b-9d83-5b07-bd1c-fe4d45657dcb","slug":"l-serine","display_name":"L-Serine","entity_type_key":"small_molecule"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"evidence_access","value_text":"Primary abstract","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Human trio-exome analysis and structural prediction.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"The proposed astrocyte-to-neuron transport mechanism was not directly measured in these two patients.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"L-Serine collection; species, compartment, exposure, co-substrates and manipulation remain explicit.","comparator":null,"unit":null,"notes":"","entity":{"slug":"l-serine","display_name":"L-Serine","entity_type_key":"small_molecule"}},{"dimension":"plain_language","value_text":"A transport defect can matter even when amino-acid synthesis is present.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum. · 2015 · https://pubmed.ncbi.nlm.nih.gov/26138499/ · DOI 10.1111/cge.12637","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null}],"evidence":[{"id":"f4334e2e-edbf-584e-b0a4-6d86e08f6875","evidence_kind":"source_excerpt","locator":"Lines 334-340","start_line":334,"end_line":340,"excerpt":"## l-serine-asct1-genetic\nA transport defect can matter even when amino-acid synthesis is present.\nTwo unrelated individuals with biallelic SLC1A4 variants had severe developmental delay, progressive microcephaly, seizures, spasticity and thin corpus callosum.\nModel: Human trio-exome analysis and structural prediction.\nLimitations: The proposed astrocyte-to-neuron transport mechanism was not directly measured in these two patients.\nEvidence access: Primary abstract\nSLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum. · 2015 · https://pubmed.ncbi.nlm.nih.gov/26138499/ · DOI 10.1111/cge.12637","model_system":"Human trio-exome analysis and structural prediction.","directness":"reported_statement","verification_status":"source_derived_draft","notes":"Original curation paraphrase; evidence access and experimental limitations specified.","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"70bcf57a-36bb-563f-9073-2d616e5f155a","stable_key":"import-649e861b-265a-5912-bc36-3a73e53ef892","title":"L-Serine: synthesis, one-carbon metabolism, lipids and cross-nutrient mechanisms (2026-09-19)","document_type":"imported_text","citation_label":"AI-assisted research curation; primary references, access levels and experimental limitations individually identified. 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